ArticleBioinformatics (Oxford, England)2019
Seave: a comprehensive web platform for storing and interrogating human genomic variation.
Article in Bioinformatics (Oxford, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- The landscape of germline variants in breast and colorectal cancer susceptibility genes in patients with pituitary tumours.Journal of neuro-oncology · 2025Article
- Common inherited loss-of-function mutations in the innate sensor NOD2 contribute to exceptional immune response to cancer immunotherapy.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours.Pituitary · 2025Article
- Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.NPJ genomic medicine · 2024Article
- Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR).Journal of clinical immunology · 2024Article
- Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.NPJ genomic medicine · 2023Article
- TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.Nature communications · 2023Article
- Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.Human mutation · 2022Article
- Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.European journal of human genetics : EJHG · 2022Article
- Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.American journal of medical genetics. Part A · 2022Article
- Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.JIMD reports · 2022Article
- Article
- Fatal perinatal mitochondrial cardiac failure caused by recurrentMed (New York, N.Y.) · 2021Article
- Comprehensive Mutational and Phenotypic Characterization of New Metastatic Cutaneous Squamous Cell Carcinoma Cell Lines Reveal Novel Drug Susceptibilities.International journal of molecular sciences · 2020Article
- RecurrentCold Spring Harbor molecular case studies · 2020Article
- Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.Nature medicine · 2020Article
- NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.Nature communications · 2020Article
- The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Development and validation of a targeted gene sequencing panel for application to disparate cancers.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Motivation: Genome sequencing has had a remarkable impact on our ability to study the effects of human genetic variation, however, variant interpretation remains the major bottleneck. Understanding the potential impact of variants, including structural variants, requires extensive annotation from disparate sources of knowledge, and in silico prediction algorithms. Results: We introduce Seave, an intuitive web platform that enables all types of variants to be securely stored, annotated and filtered. Variants are annotated with allele frequencies and pathogenicity assessments from many popular databases and in silico pathogenicity prediction scores. Seave enables filtering of variants with specific inheritance patterns, including somatic variants, by quality, allele frequencies and gene lists which can be curated and saved. Seave was made for whole genome data and is capable of storing and querying copy number and structural variants. Availability and implementation: To demo Seave with public data, see https://www.seave.bio. Source code is available at http://code.seave.bio and extensive documentation is available at http://documentation.seave.bio. Seave can be locally installed on an Apache server with PHP and MySQL, or we provide an Amazon Machine Image for quick deployment. For commercial and clinical diagnostic licensing, contact the corresponding author. Supplementary information: Supplementary data are available at Bioinformatics online.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.